Canonical Allele Identifier: PA2826666070
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100813
ClinVar RCV Id: RCV000087171
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269607.1:p.Glu1007Asp
CA229009
NM_001282678.2:c.3021A>T
CA368160415
NM_001282678.2:c.3021A>C